Fine-needle aspiration cytology in children with superficial lymphadenopathy.

INTRODUCTION: In pediatric population Fine-Needle Aspiration Citology (FNAC) is slowly gaining acceptance in clinical management of Superficial Lymphadenopathy (SL). Our experience adds some data about the usefulness of this technique in diagnosing the cause of a SL and therefore guiding further treatment. PATIENTS AND METHODS: 238 FNAC were performed in 217 patients with SL, observed at our Institution from 2002 to 2006. The neck was the most frequent localization. The results were available within few hours. In cases of granulomatous findings, the samples were processed for microbiological and PCR test, in order to identify Mycobacteria. RESULTS: 174 were reactive lesions, 38 granulomatous lymphadenopathies, 24 malignant lesions, 2 specimens inadequate for diagnosis. Among the 174 reactive SL, 22 required an incisional biopsy after 1 month follow-up. Among the granulomatous lymphadenopathies, 13 children with Cat-Scratch Disease recovered, 25 with Mycobacteria infection underwent surgical excision. For 24 malignant lesions, the diagnosis was confirmed by further biopsy. Two false negative and no false positive were detected (sensitivity 92%, specificity 100%). No complications were encountered. CONCLUSIONS: In our experience FNAC, performed by experienced cytopathologist, has revealed to be a fast, safe, non invasive and inexpensive method to achieve diagnosis in persistent SL. The use of FNAC gave us the possibility to select patients for further investigation and/or surgical treatment. Incisional biopsy remains necessary to confirm the diagnosis in case of malignancy or doubtful lesions.

Lung metastasis from TTF-1 positive sigmoid adenocarcinoma. pitfalls and management.

The lung is a frequent site of metastatic involvement, and in many cases the differential diagnosis between a metastasis and a primary carcinoma is a substantial question. TTF-1 is considered as a reliable marker for differential diagnosis in distinguishing primary lung carcinoma and metastasis, especially when dealing with an adenocarcinoma or a large-cell carcinoma. It was generally thought that adenocarcinomas arising in the gastrointestinal tract do not express TTF-1. Recently, it has been reported that a small percentage (1.8%-5.8%) of intestinal adenocarcinoma TTF-1 positive show differences in sensitivity/specificity depending on the antibody clones. We report a case of lung localization of a TTF-1 positive adenocarcinoma in a patient with a history of colon adenocarcinoma. Based on the current results and previous reports, we propose the following criteria for diagnosing lung metastasis from TTF-1 positive intestinal adenocarcinoma. 1) Clinical features and anamnestic history are diagnostic milestones, and provide very important information as a prognostic parameter of primary carcinoma and the time interval between the two localizations (primary and metastasis). 2) The histologic features are compatible with an enteric differentiation. 3) TTF-1 must be tested in the primary carcinoma. 4) In lung lesions, in association with TTF-1, it could be useful to test other immunohistochemical markers such as CDX-2 and NapsinA. 5) Testing other immunohistochemical or molecular markers in either lesion is not very useful. Heterogeneity between primary and metastatic lesions has been reported in the literature. Application of the above-mentioned criteria would simplify diagnosis of lung metastases from TTF-1 positive intestinal adenocarcinoma.

Molecular pathology of colorectal carcinoma. A systematic review centred on the new role of the pathologist.

Colorectal carcinoma (CRC) is the second most frequent malignant disease in developed countries. Many aetiological factors have been reported in CRC development including genetic or non-genetic (environmental) elements. Independently of these, three groups of alterations have been implicated: 1) chromosomal instability (CIN); 2) microsatellite instability (MSI); 3) CpG island methylator phenotype (CIMP). A different multistep association between these alterations contributes to determine three distinct developmental pathways: traditional, alternative and serrated. Each genotypic CRC assessment is associated with specific morphologic or clinical features. Pathologists have to consider the morphologic and clinical features of each CRC when study tumours with molecular tests. Chromatin remodelling is extremely dynamic and depends on several DNA-based processes, such as transcription, DNA repair and replication. The recent results with whole genome sequencing in a vast array of cancers have provided a catalogue of genetic lesions in chromatin modifiers that were previously unappreciated. It has revealed surprising facts about mutations in several SWI/ SNF complex members in many malignancies including CRC. The loss of INI1 expression is detected at a low rate in CRC and may be associated with differentiation grade and survival. Accumulating evidence suggests a critical role of the epithelial mesenchymal transition (EMT) in cancer progression. Some results support the existence of crosstalk between EMT and epigenetic modifications in the MSI-CRC group. We have summarized the role of genetic/epigenetic changes in the origin of the multiple CRC pathway, taking into account current knowledge of pathogenesis and feasibility of designing novel therapeutic approaches.

Collecting duct carcinoma of kidney producing alpha-fetoprotein.

AIM: A case of a collecting duct carcinoma (CDC) of the kidney alpha-fetoprotein producing is reported. Serum elevation of alpha-fetoprotein (AFP) is a common marker for hepatocellular carcinoma, although some extrahepatic carcinomas, also of the kidney, with elevated AFP levels have also been reported in the literature. CASE REPORT: A 62-year-old man with a collecting duct carcinoma of the kidney presenting as a mediastinal mass and supra-clavicular lymph node enlargement, and with a serum alpha-fetoprotein (AFP) level of 102.8 microg/L. RESULTS AND CONCLUSIONS: CDC of the kidney is associated with an aggressive course and extremely poor prognosis. There are no standard treatment regimens, and neither immunotherapy nor chemotherapy has been found to be effective. In the present case, nephrectomy followed by a chemotherapeutic association of carboplatin and gemcitabine gave promising results, with lessening of the patient's symptoms.

Fine-needle aspiration cytology of malignant nerve sheath tumors.

Precise preoperative diagnosis of three malignant nerve sheath tumors (MNST) was based on their remarkably uniform and highly characteristic cytologic appearance. The differential diagnosis with benign nerve sheath tumors and other spindle cell sarcomas is addressed, and the possibility of achieving confident diagnosis on cytologic material from at least some soft-tissue sarcomas is confirmed.

Cervical schwannoma with intranuclear vacuoles by fine-needle sampling without aspiration.

In a 49-yr-old woman who presented with a cervical mass, a fine-needle specimen without aspiration was suggestive of paraganglioma; there were spindle-shaped cells with pseudoacinar structures and prominent intranuclear vacuoles. Subsequent examination of a mass removed from the vagus nerve clearly identified a schwannoma. The differential diagnosis is discussed, particularly in relation to the presence of intranuclear vacuoles, and it is concluded that this cytological characteristic should not in itself define the diagnosis.